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Items: 1 to 50 of 130

1.

Muscle diffusion tensor imaging in glycogen storage disease V (McArdle disease).

Rehmann R, Schlaffke L, Froeling M, Kley RA, Kühnle E, De Marées M, Forsting J, Rohm M, Tegenthoff M, Schmidt-Wilcke T, Vorgerd M.

Eur Radiol. 2019 Jun;29(6):3224-3232. doi: 10.1007/s00330-018-5885-1. Epub 2018 Dec 17.

PMID:
30560358
2.

The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?

Clemen CS, Winter L, Strucksberg KH, Berwanger C, Türk M, Kornblum C, Florin A, Aguilar-Pimentel JA, Amarie OV, Becker L, Garrett L, Hans W, Moreth K, Neff F, Pingen L, Rathkolb B, Rácz I, Rozman J, Treise I, Fuchs H, Gailus-Durner V, de Angelis MH, Vorgerd M, Eichinger L, Schröder R.

Biochem Biophys Res Commun. 2018 Sep 18;503(4):2770-2777. doi: 10.1016/j.bbrc.2018.08.038. Epub 2018 Aug 9.

3.

Label-free identification of myopathological features with coherent anti-Stokes Raman scattering.

Niedieker D, GrosserÜschkamp F, Schreiner A, Barkovits K, Kötting C, Marcus K, Gerwert K, Vorgerd M.

Muscle Nerve. 2018 Sep;58(3):456-459. doi: 10.1002/mus.26140. Epub 2018 May 17.

PMID:
29663456
4.

Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature.

Dusanic M, Dekomien G, Lücke T, Vorgerd M, Weis J, Epplen JT, Köhler C, Hoffjan S.

Mol Syndromol. 2018 Feb;9(2):100-109. doi: 10.1159/000485881. Epub 2018 Jan 24.

5.

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.

Unger A, Beckendorf L, Böhme P, Kley R, von Frieling-Salewsky M, Lochmüller H, Schröder R, Fürst DO, Vorgerd M, Linke WA.

Acta Neuropathol Commun. 2017 Sep 15;5(1):72. doi: 10.1186/s40478-017-0474-0.

6.

Treadmill Training with HAL Exoskeleton-A Novel Approach for Symptomatic Therapy in Patients with Limb-Girdle Muscular Dystrophy-Preliminary Study.

Sczesny-Kaiser M, Kowalewski R, Schildhauer TA, Aach M, Jansen O, Grasmücke D, Güttsches AK, Vorgerd M, Tegenthoff M.

Front Neurosci. 2017 Aug 8;11:449. doi: 10.3389/fnins.2017.00449. eCollection 2017.

7.

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.

Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B.

Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21.

8.

The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.

Brodehl A, Gaertner-Rommel A, Klauke B, Grewe SA, Schirmer I, Peterschröder A, Faber L, Vorgerd M, Gummert J, Anselmetti D, Schulz U, Paluszkiewicz L, Milting H.

Hum Mutat. 2017 Aug;38(8):947-952. doi: 10.1002/humu.23248. Epub 2017 Jun 21.

PMID:
28493373
9.

Diffusion tensor imaging of the human calf: Variation of inter- and intramuscle-specific diffusion parameters.

Schlaffke L, Rehmann R, Froeling M, Kley R, Tegenthoff M, Vorgerd M, Schmidt-Wilcke T.

J Magn Reson Imaging. 2017 Oct;46(4):1137-1148. doi: 10.1002/jmri.25650. Epub 2017 Feb 2.

PMID:
28152253
10.

Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.

Güttsches AK, Brady S, Krause K, Maerkens A, Uszkoreit J, Eisenacher M, Schreiner A, Galozzi S, Mertens-Rill J, Tegenthoff M, Holton JL, Harms MB, Lloyd TE, Vorgerd M, Weihl CC, Marcus K, Kley RA.

Ann Neurol. 2017 Feb;81(2):227-239. doi: 10.1002/ana.24847. Epub 2017 Jan 27.

11.

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.

Unger A, Dekomien G, Güttsches A, Dreps T, Kley R, Tegenthoff M, Ferbert A, Weis J, Heyer C, Linke WA, Martinez-Carrera L, Storbeck M, Wirth B, Hoffjan S, Vorgerd M.

Neurology. 2016 Nov 22;87(21):2235-2243. Epub 2016 Oct 26.

PMID:
27784775
12.

Confocal Cornea Microscopy Detects Involvement of Corneal Nerve Fibers in a Patient with Light-Chain Amyloid Neuropathy Caused by Multiple Myeloma: A Case Report.

Sturm D, Schmidt-Wilcke T, Greiner T, Maier C, Schargus M, Tegenthoff M, Vorgerd M.

Case Rep Neurol. 2016 Jun 27;8(2):134-9. doi: 10.1159/000446538. eCollection 2016 May-Aug.

13.

Unveiling of miRNA Expression Patterns in Purkinje Cells During Development.

Pieczora L, Stracke L, Vorgerd M, Hahn S, Theiss C, Theis V.

Cerebellum. 2017 Apr;16(2):376-387. doi: 10.1007/s12311-016-0814-9.

PMID:
27387430
14.

Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy.

Gruhn KM, Heyer CM, Güttsches AK, Rehmann R, Nicolas V, Schmidt-Wilcke T, Tegenthoff M, Vorgerd M, Kley RA.

Mol Genet Metab Rep. 2015 Apr 21;3:58-64. doi: 10.1016/j.ymgmr.2015.03.010. eCollection 2015 Jun.

15.

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.

Maerkens A, Olivé M, Schreiner A, Feldkirchner S, Schessl J, Uszkoreit J, Barkovits K, Güttsches AK, Theis V, Eisenacher M, Tegenthoff M, Goldfarb LG, Schröder R, Schoser B, van der Ven PF, Fürst DO, Vorgerd M, Marcus K, Kley RA.

Acta Neuropathol Commun. 2016 Feb 3;4:8. doi: 10.1186/s40478-016-0280-0.

16.

Myofibrillar instability exacerbated by acute exercise in filaminopathy.

Chevessier F, Schuld J, Orfanos Z, Plank AC, Wolf L, Maerkens A, Unger A, Schlötzer-Schrehardt U, Kley RA, Von Hörsten S, Marcus K, Linke WA, Vorgerd M, van der Ven PF, Fürst DO, Schröder R.

Hum Mol Genet. 2015 Dec 20;24(25):7207-20. doi: 10.1093/hmg/ddv421. Epub 2015 Oct 15.

PMID:
26472074
17.

50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.

Walter MC, Rossius M, Zitzelsberger M, Vorgerd M, Müller-Felber W, Ertl-Wagner B, Zhang Y, Brinkmeier H, Senderek J, Schoser B.

Neuromuscul Disord. 2015 Jul;25(7):577-84. doi: 10.1016/j.nmd.2015.04.005. Epub 2015 Apr 16.

PMID:
25953320
18.

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

Güttsches AK, Dekomien G, Claeys KG, von der Hagen M, Huebner A, Kley RA, Kirschner J, Vorgerd M.

Neuromuscul Disord. 2015 May;25(5):392-6. doi: 10.1016/j.nmd.2015.01.013. Epub 2015 Feb 3.

PMID:
25740301
19.

Th2-M2 immunity in lesions of muscular sarcoidosis and macrophagic myofasciitis.

Preusse C, Goebel HH, Pehl D, Rinnenthal JL, Kley RA, Allenbach Y, Heppner FL, Vorgerd M, Authier FJ, Gherardi R, Stenzel W.

Neuropathol Appl Neurobiol. 2015 Dec;41(7):952-63. doi: 10.1111/nan.12231. Epub 2015 May 19.

PMID:
25711697
20.

ATOH8: a novel marker in human muscle fiber regeneration.

Güttsches AK, Balakrishnan-Renuka A, Kley RA, Tegenthoff M, Brand-Saberi B, Vorgerd M.

Histochem Cell Biol. 2015 May;143(5):443-52. doi: 10.1007/s00418-014-1299-6. Epub 2014 Dec 17.

PMID:
25514850
21.

Effects of follicular versus luteal phase-based strength training in young women.

Sung E, Han A, Hinrichs T, Vorgerd M, Manchado C, Platen P.

Springerplus. 2014 Nov 11;3:668. doi: 10.1186/2193-1801-3-668. eCollection 2014.

22.

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

Semmler AL, Sacconi S, Bach JE, Liebe C, Bürmann J, Kley RA, Ferbert A, Anderheiden R, Van den Bergh P, Martin JJ, De Jonghe P, Neuen-Jacob E, Müller O, Deschauer M, Bergmann M, Schröder JM, Vorgerd M, Schulz JB, Weis J, Kress W, Claeys KG.

Orphanet J Rare Dis. 2014 Aug 1;9:121. doi: 10.1186/s13023-014-0121-9.

23.

Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional survey.

Karabul N, Skudlarek A, Berndt J, Kornblum C, Kley RA, Wenninger S, Tiling N, Mengel E, Plöckinger U, Vorgerd M, Deschauer M, Schoser B, Hanisch F.

JIMD Rep. 2014;17:53-61. doi: 10.1007/8904_2014_334. Epub 2014 Aug 26.

24.

Long survival in Leigh syndrome: new cases and review of literature.

Aulbert W, Weigt-Usinger K, Thiels C, Köhler C, Vorgerd M, Schreiner A, Hoffjan S, Rothoeft T, Wortmann SB, Heyer CM, Podskarbi T, Lücke T.

Neuropediatrics. 2014 Dec;45(6):346-53. doi: 10.1055/s-0034-1383823. Epub 2014 Aug 11. Review.

PMID:
25111564
25.

Pregnancy and delivery in women with Pompe disease.

Karabul N, Berndt J, Kornblum C, Kley RA, Wenninger S, Tiling N, Mengel E, Plöckinger U, Vorgerd M, Deschauer M, Schoser B, Hanisch F.

Mol Genet Metab. 2014 Jun;112(2):148-53. doi: 10.1016/j.ymgme.2014.03.010. Epub 2014 Mar 30.

PMID:
24726296
26.

Human myocytes are protected from titin aggregation-induced stiffening by small heat shock proteins.

Kötter S, Unger A, Hamdani N, Lang P, Vorgerd M, Nagel-Steger L, Linke WA.

J Cell Biol. 2014 Jan 20;204(2):187-202. doi: 10.1083/jcb.201306077. Epub 2014 Jan 13.

27.

Mitochondrial abnormalities in myofibrillar myopathies.

Joshi PR, Hauburger A, Kley R, Claeys KG, Schneider I, Kress W, Stoltenburg G, Weis J, Vorgerd M, Deschauer M, Hanisch F.

Clin Neuropathol. 2014 Mar-Apr;33(2):134-42. doi: 10.5414/NP300693.

PMID:
24361111
28.

[Diagnosis and therapy of late onset Pompe disease].

Schüller A, Kornblum C, Deschauer M, Vorgerd M, Schrank B, Mengel E, Lukacs Z, Gläser D, Young P, Plöckinger U, Schoser B.

Nervenarzt. 2013 Dec;84(12):1467-72. doi: 10.1007/s00115-013-3947-9. Review. German.

PMID:
24264645
29.

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.

Dohrn MF, Röcken C, De Bleecker JL, Martin JJ, Vorgerd M, Van den Bergh PY, Ferbert A, Hinderhofer K, Schröder JM, Weis J, Schulz JB, Claeys KG.

J Neurol. 2013 Dec;260(12):3093-108. doi: 10.1007/s00415-013-7124-7. Epub 2013 Oct 8.

PMID:
24101130
30.

Creatine for treating muscle disorders.

Kley RA, Tarnopolsky MA, Vorgerd M.

Cochrane Database Syst Rev. 2013 Jun 5;(6):CD004760. doi: 10.1002/14651858.CD004760.pub4. Review.

31.

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.

Maerkens A, Kley RA, Olivé M, Theis V, van der Ven PF, Reimann J, Milting H, Schreiner A, Uszkoreit J, Eisenacher M, Barkovits K, Güttsches AK, Tonillo J, Kuhlmann K, Meyer HE, Schröder R, Tegenthoff M, Fürst DO, Müller T, Goldfarb LG, Vorgerd M, Marcus K.

J Proteomics. 2013 Sep 2;90:14-27. doi: 10.1016/j.jprot.2013.04.026. Epub 2013 Apr 30.

32.

Human β-defensin-3 correlates with muscle fibre degeneration in idiopathic inflammatory myopathies.

Güttsches AK, Jacobsen F, Theiss C, Rittig A, Rehimi R, Kley RA, Vorgerd M, Steinstraesser L.

Innate Immun. 2014 Jan;20(1):49-60. doi: 10.1177/1753425913481820. Epub 2013 Apr 22.

PMID:
23608825
33.

[Metabolic and mitochondrial myopathies].

Vorgerd M, Deschauer M.

Z Rheumatol. 2013 Apr;72(3):242-54. doi: 10.1007/s00393-012-1082-9. German.

PMID:
23553022
34.

Morphological spectrum and clinical features of myopathies with tubular aggregates.

Funk F, Ceuterick-de Groote C, Martin JJ, Meinhardt A, Taratuto AL, De Bleecker J, Van Coster R, De Paepe B, Schara U, Vorgerd M, Häusler M, Koppi S, Maschke M, De Jonghe P, Van Maldergem L, Noel S, Zimmermann CW, Wirth S, Isenmann S, Stadler R, Schröder JM, Schulz JB, Weis J, Claeys KG.

Histol Histopathol. 2013 Aug;28(8):1041-54. doi: 10.14670/HH-28.1041. Epub 2013 Mar 12.

PMID:
23479431
35.

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.

Walter MC, Reilich P, Thiele S, Schessl J, Schreiber H, Reiners K, Kress W, Müller-Reible C, Vorgerd M, Urban P, Schrank B, Deschauer M, Schlotter-Weigel B, Kohnen R, Lochmüller H.

Orphanet J Rare Dis. 2013 Feb 14;8:26. doi: 10.1186/1750-1172-8-26.

36.

Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations.

Kley RA, van der Ven PF, Olivé M, Höhfeld J, Goldfarb LG, Fürst DO, Vorgerd M.

Autophagy. 2013 Mar;9(3):422-3. doi: 10.4161/auto.22921. Epub 2012 Dec 13.

37.

A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients.

Kley RA, Maerkens A, Leber Y, Theis V, Schreiner A, van der Ven PF, Uszkoreit J, Stephan C, Eulitz S, Euler N, Kirschner J, Müller K, Meyer HE, Tegenthoff M, Fürst DO, Vorgerd M, Müller T, Marcus K.

Mol Cell Proteomics. 2013 Jan;12(1):215-27. doi: 10.1074/mcp.M112.023176. Epub 2012 Oct 31.

38.

Filamin C-related myopathies: pathology and mechanisms.

Fürst DO, Goldfarb LG, Kley RA, Vorgerd M, Olivé M, van der Ven PF.

Acta Neuropathol. 2013 Jan;125(1):33-46. doi: 10.1007/s00401-012-1054-9. Epub 2012 Oct 30.

39.

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

Kley RA, Serdaroglu-Oflazer P, Leber Y, Odgerel Z, van der Ven PF, Olivé M, Ferrer I, Onipe A, Mihaylov M, Bilbao JM, Lee HS, Höhfeld J, Djinović-Carugo K, Kong K, Tegenthoff M, Peters SA, Stenzel W, Vorgerd M, Goldfarb LG, Fürst DO.

Brain. 2012 Sep;135(Pt 9):2642-60. doi: 10.1093/brain/aws200.

40.

[Camptocormia in the differential diagnosis of hyperkyphosis and ankylosing spondylitis].

Sarholz M, Vorgerd M, Braun J.

Dtsch Med Wochenschr. 2012 Sep;137(36):1736-9. doi: 10.1055/s-0032-1305212. Epub 2012 Aug 29. German.

PMID:
22933194
41.

[Standard treatment for myositis and muscular dystrophies].

Schmidt J, Vorgerd M.

Nervenarzt. 2011 Jun;82(6):723-32. doi: 10.1007/s00115-010-2970-3. Review. German.

PMID:
21614632
42.

Creatine for treating muscle disorders.

Kley RA, Tarnopolsky MA, Vorgerd M.

Cochrane Database Syst Rev. 2011 Feb 16;(2):CD004760. doi: 10.1002/14651858.CD004760.pub3. Review. Update in: Cochrane Database Syst Rev. 2013;6:CD004760.

PMID:
21328269
43.

Central mechanisms during fatiguing muscle exercise in muscular dystrophy and fibromyalgia syndrome: a study with transcranial magnetic stimulation.

Schwenkreis P, Voigt M, Hasenbring M, Tegenthoff M, Vorgerd M, Kley RA.

Muscle Nerve. 2011 Apr;43(4):479-84. doi: 10.1002/mus.21920. Epub 2011 Feb 8.

PMID:
21305574
44.

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H.

Hum Mol Genet. 2010 Dec 1;19(23):4595-607. doi: 10.1093/hmg/ddq387. Epub 2010 Sep 9.

PMID:
20829228
45.

Increased [11C]PIB-PET levels in inclusion body myositis are indicative of amyloid beta deposition.

Maetzler W, Reimold M, Schittenhelm J, Vorgerd M, Bornemann A, Kötter I, Pfannenberg C, Reischl G, Schöls L.

J Neurol Neurosurg Psychiatry. 2011 Sep;82(9):1060-2. doi: 10.1136/jnnp.2009.197640. Epub 2010 Aug 22. No abstract available.

PMID:
20732867
46.

Diagnosis of leptomeningeal disease in diffuse large B-cell lymphomas of the central nervous system by flow cytometry and cytopathology.

Schroers R, Baraniskin A, Heute C, Vorgerd M, Brunn A, Kuhnhenn J, Kowoll A, Alekseyev A, Schmiegel W, Schlegel U, Deckert M, Pels H.

Eur J Haematol. 2010 Dec;85(6):520-8. doi: 10.1111/j.1600-0609.2010.01516.x. Epub 2010 Oct 28.

PMID:
20727005
47.

MRI in lipid-lowering agent-associated myopathy: a retrospective review of 21 cases.

Peters SA, Kley R, Tegenthoff M, Vorgerd M, Nicolas V, Heyer CM.

AJR Am J Roentgenol. 2010 Apr;194(4):W323-8. doi: 10.2214/AJR.09.2698.

PMID:
20308477
48.

Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.

Guettsches AK, Kuechler A, Gal A, Schmitz W, Tegenthoff M, Vorgerd M.

J Neurol. 2010 Aug;257(8):1394-5. doi: 10.1007/s00415-010-5505-8. Epub 2010 Mar 2. Erratum in: J Neurol. 2010 Aug;257(8):1417.

PMID:
20195870
49.

Rippling muscle disease: variable phenotype in a family with five afflicted members.

Jacobi C, Ruscheweyh R, Vorgerd M, Weber MA, Storch-Hagenlocher B, Meinck HM.

Muscle Nerve. 2010 Jan;41(1):128-32. doi: 10.1002/mus.21446.

PMID:
19697367
50.

Therapeutic options in other metabolic myopathies.

Vorgerd M.

Neurotherapeutics. 2008 Oct;5(4):579-82. doi: 10.1016/j.nurt.2008.08.006. Review.

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